With Down syndrome diagnoses comes a wrenching choice

May 1, 2013
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Gracie McLaughlin's mother, Melanie Perkins McLaughlin, chose to continue her pregnancy after learning her daughter would have Down syndrome. "I look at her and see this wonderful toddler," McLaughlin says. / Josh T. Reynolds for USA TODAY

by Liz Szabo, USA TODAY

by Liz Szabo, USA TODAY

BOSTON - Melanie Perkins McLaughlin was sitting in a stranger's living room, 20 weeks pregnant and filled with fear. Only days earlier, she had learned that her much-wanted baby - conceived after two miscarriages - had Down syndrome.

Doctors had made the diagnosis by first screening McLaughlin with a test that analyzes proteins and hormones in a woman's blood. Her results were confirmed with an amniocentesis, an invasive procedure that allows doctors to analyze cells from amniotic fluid.

Doctors gave McLaughlin the option to terminate but told her she would have to decide quickly. Massachusetts allows abortion up to 24 weeks of pregnancy.

"It was a heartbreaking decision," says McLaughlin, of Medford, Mass.

She wondered whether she was up to the task of raising a child with Down syndrome, which causes intellectual disabilities, low muscle tone and other complications. "It was one of the loneliest times."

While prenatal tests have been available since the 1970s, rapid technological advances are opening up a new era, doctors say - one in which couples have an unprecedented glimpse of the forming child, and with this new information an often-wrenching choice: proceed with the pregnancy or terminate it.

The American College of Obstetrics and Gynecology now recommends offering prenatal testing to all pregnant women, although it says the most sophisticated tests should be reserved for those at high risk.

Because some new screenings are non-invasive - involving a blood draw instead of long needles in the belly - they're likely to appeal to far more women, says medical geneticist Brian Skotko. Today, only 2% of pregnant women opt for invasive prenatal procedures. Next-generation screenings have broader appeal because they can be done early in pregnancy, without risk to the fetus, he says.

Though these scientific advances give doctors and parents an early window on the fetus and enable medical teams to anticipate complications, the tests also usher in a world of uncertainty that could affect millions of couples in the coming years.

Women who sign up for a simple blood test could, a few weeks later, find themselves considering whether to terminate their pregnancy, says Skotko, co-director of the Down syndrome program at Massachusetts General Hospital. As McLaughlin found, these decisions are particularly difficult because they come not long after couples are hit with the initial shock and grief of a frightening diagnosis.

"When families get a diagnosis prenatally, they use the words 'shock,' 'sadness,' 'disbelief,' " says Sarah Cullen, family support director for the Massachusetts Down Syndrome Congress. "You feel like the rug is pulled out from under you. You feel very heavy. You feel very, very alone."

EARLIER AND EARLIER DIAGNOSES

The past couple of years have seen several major breakthroughs:

â?¢ Non-invasive fetal DNA tests. Over the past 18 months, four companies have begun marketing screenings that measure "cell-free" fetal DNA, which circulates freely in a pregnant woman's blood. The first to enter the market, Sequenom, says it has processed 100,000 of its MaterniT21 tests for Down syndrome.

These blood tests can detect Down syndrome with about 99% accuracy nine weeks into pregnancy. Because of the small risk of error, positive results are confirmed with an amnio or chorionic villus sampling (CVS), which analyzes cells from the placenta. Amniocentesis is typically performed between 15 and 20 weeks, while CVS can be done between nine and 12 weeks.

â?¢ Mapping the fetal genome. Last year, scientists proved that an entire fetal genome, or genetic blueprint, can be sequenced with just a sample of the mother's blood. While that level of analysis is not yet available to the public, the technique could allow doctors to look for countless genetic conditions. Analyzing cell-free fetal DNA "is likely the first of major steps" toward routinely sequencing the fetal genome, according to a statement released in April by the American College of Medical Genetics and Genomics.

â?¢ Microarrays. Another new test, a chromosomal microarray, is five times as sensitive as the traditional analyses used with amnio or CVS. Traditional tests involve looking at chromosomes under a microscope. Microarrays use computer chips to detect sections of DNA that are either deleted or repeated in unusual ways. In a December study, microarrays found genetic problems in 1.7% of the fetuses of women at high risk because of their age or other issues. Study authors said doctors should consider offering the procedures to all women, not just those at high risk.

While the medical community is largely cheering these advances, some opponents of abortion see the new technology as a threat, and they're responding by restricting when women can terminate a pregnancy.

Advocates for the disabled are also concerned, fearing that women may end pregnancies based on misinformation or myths.

Many women are unprepared for these choices, says Ruth Faden, director of the Johns Hopkins Berman Institute of Bioethics. And even as the science leaps ahead, she says, the basic ethical dilemma of prenatal testing hasn't changed.

"This technology has not given us some way to magically prevent the condition or cure the baby," Faden says. "The pregnancy will be terminated or the baby will be born with it."

Some now wonder whether people with Down syndrome eventually will disappear from society, Skotko says, even as medical and educational advances allow them to lead longer, healthier lives than ever before.

"What kinds of life do we consider valuable?" asks Skotko, whose younger sister has Down syndrome. "And who gets to decide that? Is it the state? Or is it the individual?"

WHAT TO DO?

McLaughlin says she couldn't make the decision alone.

She and her husband sought out another family that had been in their shoes, hoping to learn what's involved in parenting a child with Down syndrome. Their meeting with the family of 5-year-old Anna Burtnett was arranged through First Call, a program in which volunteers open their doors to couples who have just received a diagnosis.

Minutes after McLaughlin arrived at her home, Anna was playing hide-and-seek with McLaughlin's children.

"It was the first time that I thought, maybe this isn't the end of the world, that maybe it would be OK," McLaughlin says.

In some ways, medicine's ability to map out a person's genetic identity is outpacing society's understanding of what it means to live with a disability, or raise a child with one, says G. Kevin Donovan, a pediatrician and director of the Edmund Pellegrino Center for Clinical Bioethics at Georgetown University in Washington.

The availability of prenatal tests has led to a sharp drop in birth rates in babies with Down syndrome, studies show. Between 60% to 90% of women who receive a prenatal Down syndrome diagnosis end the pregnancy, according to a 2012 analysis of 24 studies in Prenatal Diagnosis.

A small number of families that proceed to birth give the child up for adoption, says Stephanie Thompson, assistant director of the National Down Syndrome Adoption Network. The Cincinnati-based group keeps a registry of 200 families who want to adopt a child with Down syndrome.

Ronald Wapner of Columbia University Medical Center in New York, a lead author of the microarray study, sees new prenatal tests as an important advance. By detecting genetic irregularities linked to autism, for example, microarrays could give parents advance notice that their baby might need early intervention.

Some couples with a high risk of inherited conditions also might not otherwise try to conceive, he says. Microarrays could allow such couples to become parents.

"I think it unfair to call this a dilemma," Wapner says. "Some parents want as much information as they can. Not having the information would be a dilemma for them."

IMPLICATIONS OF TESTS

The timing of prenatal tests has become critical - both for medical and political reasons.

Early screenings could be a boon to women's health, by allowing women with negative results to avoid further invasive tests, says Matthew Rabinowitz, CEO of Natera, a California company that makes a fetal DNA screening.

Women with confirmed positive results would have the option of an earlier abortion, which poses fewer risks to women, Rabinowitz says.

Earlier this year, Arkansas banned most abortions after 12 weeks, a point in pregnancy at which many women have not yet had time to undergo prenatal screenings or learn their results.

In March, North Dakota became the first state in the USA to ban abortions in the case of genetic conditions such as Down syndrome. While the law doesn't mention prenatal testing, it states that a doctor may not perform an abortion if a pregnant woman wants the procedure because of a fetal condition. The law also virtually bans abortions by making them illegal after a fetal heartbeat can be detected. That can be as early as six weeks.

Several states - Massachusetts, Virginia, Kentucky and Missouri - have passed laws requiring that women with a prenatal Down syndrome diagnosis receive "accurate, up-to-date" information about the condition.

In Massachusetts, that information includes the number to the First Call program, which rings to Cullen's cellphone. Other states have similar programs, also run by Down syndrome groups.

Cullen describes the First Call program as neither pro-life, nor pro-choice, but "pro-information." Her group gets no funding from anti-abortion organizations.

Many parents of children with Down syndrome complain that their doctors gave them inaccurate or outdated information, Skotko and other researchers say. Some moms report being told that their child would never live on his own, hold a job or even be able to make change for the bus.

And doctors who offer prenatal testing often have little training in Down syndrome, Skotko's research shows. Many are unprepared to counsel couples about what it means to raise a child with this kind of disability.

For many couples, the challenges of raising a child with Down syndrome seem overwhelming. Half of babies are born with congenital heart defects, which often require surgery. Children with Down syndrome have low muscle tone, so they may not learn to walk or talk in sentences until age 3 or 4. Adults with Down syndrome have an increased risk of life-long complications, from thyroid problems to early Alzheimer's.

Yet Faden, the bioethicist, says few people can accurately predict how they will react even process such a daunting diagnosis.

Although many people anticipate feeling devastated by a serious medical condition, most are more resilient than they imagine, Faden says. After an initial period of shock, most people adapt, and "rate their quality of life as just as good as before," Faden says.

"With parenting, you may think, 'This is going to be beyond my ability to cope,' " Faden says. "But then the child is born and life is good - not perfect and maybe not according to plan - but good."

COMING TO TERMS

In the end, McLaughlin chose to continue her pregnancy. Her daughter, Gracie, is now 5.

"If I could go back, I wish I could tell myself not to be so afraid," says McLaughlin, now 46. Having a baby with Down syndrome "wasn't a bad thing. It was a very good thing."

Even so, coming to terms with Down syndrome took time. McLaughlin says she waited eight hours after Gracie's birth before visiting her in the neonatal intensive care unit.

Gracie's heart surgery at 2 months was a "wake-up call," says McLaughlin, a documentary filmmaker. "I had to hand her over to a doctor, not knowing if I would get her back."

Today, McLaughlin is a passionate advocate for Gracie, as well as a volunteer with the First Call program. McLaughlin has made a series of videos about life with Down syndrome for the National Down Syndrome Society, which debuted in March.

McLaughlin says she respects the couples who visit her home, no matter what they decide.

"I would never in a million years judge them," McLaughlin says. "Who is anybody else to judge somebody in that situation? Even if you've been in that position, with a prenatal diagnosis, everyone is an individual and every situation is different."

One mother cried after seeing Gracie in person, McLaughlin says. The mother, suffering from postpartum depression, had learned her son's diagnosis just after delivery.

"I said, 'It's OK. I know you look at her and see Down syndrome,' " McLaughlin says. " 'I look at her and see this wonderful toddler. You'll get there, too.' "